ClinVar Genomic variation as it relates to human health
NM_001013703.4(EIF2AK4):c.2319+9A>G
Germline
Classification
(2)
Benign/Likely benign
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
EIF2AK4 | - | - |
GRCh38 GRCh37 |
382 | 415 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jan 25, 2024 | RCV003561506.1 | |
EIF2AK4-related disorder
|
Likely benign (1) |
|
Dec 29, 2023 | RCV003946704.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024